Suzanne E de Bruijn

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Topics

Circulating Tumor Cells

Single Molecule

Top Venues

International journal of molecular sciences

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E de Bruijn
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients. Genes 14 (8) (2023)
Jeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, null null, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A H Pegge, Kornelia Neveling, Ronald J E Pennings, Hannie Kremer
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics (2021)
Suzanne E de Bruijn, Zeinab Fadaie, Frans P M Cremers, Hannie Kremer, Susanne Roosing
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. International journal of molecular sciences 22 (6) (2021)
Jeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, Jaap Oostrik, Luke O'Gorman, Tuomo Mantere, null null, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A H Pegge, Kornelia Neveling, Ronald J E Pennings, Hannie Kremer
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics (2021)
Erik de Vrieze, Suzanne E de Bruijn, Janine Reurink, Sanne Broekman, Vince van de Riet, Marco Aben, Hannie Kremer, Erwin van Wijk
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes. International journal of molecular sciences 22 (17) (2021)
Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer, null null
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. Journal of medical genetics (2020)